IFNGR2, interferon gamma receptor 2, 3460

N. diseases: 71; N. variants: 13
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1059293
rs1059293
0.882 0.080 21 33437386 3 prime UTR variant C/T snv 0.59
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1059293
rs1059293
0.882 0.080 21 33437386 3 prime UTR variant C/T snv 0.59
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1059293
rs1059293
0.882 0.080 21 33437386 3 prime UTR variant C/T snv 0.59
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
0.010 1.000 1 2014 2014
dbSNP: rs1355972653
rs1355972653
0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06
CUI: C0036631
Disease: Seminoma
Seminoma
Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1355972653
rs1355972653
0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06
CUI: C1335059
Disease: testicular nonseminoma
testicular nonseminoma
0.010 1.000 1 2007 2007
dbSNP: rs1355972653
rs1355972653
0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2012075
rs2012075
1.000 0.080 21 33424455 intron variant C/G;T snv
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2284553
rs2284553
0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs2284553
rs2284553
0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0042749
Disease: Viremia
Viremia
Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs2284553
rs2284553
0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
Digestive System Diseases; Infections 0.010 < 0.001 1 2014 2014
dbSNP: rs74315444
rs74315444
1.000 21 33426974 missense variant C/A snv
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections
Infections 0.010 1.000 1 2019 2019
dbSNP: rs8126756
rs8126756
0.925 0.040 21 33403138 5 prime UTR variant T/C;G snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs8126756
rs8126756
0.925 0.040 21 33403138 5 prime UTR variant T/C;G snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs8126756
rs8126756
0.925 0.040 21 33403138 5 prime UTR variant T/C;G snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9808753
rs9808753
0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C0155877
Disease: Allergic asthma
Allergic asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs9808753
rs9808753
0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
Mucosa-Associated Lymphoid Tissue Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9808753
rs9808753
0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs9808753
rs9808753
0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs9808753
rs9808753
0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9808753
rs9808753
0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9808753
rs9808753
0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma
Immune System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs9808753
rs9808753
0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs9808753
rs9808753
0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9808753
rs9808753
0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9808753
rs9808753
0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C1367654
Disease: Marginal Zone B-Cell Lymphoma
Marginal Zone B-Cell Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011